Dana Brozkova-Safka

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 34 publications

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Journal: Neurogenetics
Published: March 16, 2026

Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.

Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.

Journal: Kidney international
Published: February 10, 2026

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.

Journal: Human genomics
Published: December 19, 2025

Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.

Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.

Journal: Frontiers in medicine
Published: September 12, 2025

Vestibular Profile of Patients with Hearing Loss Caused by Pathogenic Variants of the STRC Gene.

Vestibular Profile of Patients with Hearing Loss Caused by Pathogenic Variants of the STRC Gene.

Journal: Otology & neurotology open
Published: July 30, 2025

Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.

Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.

Journal: Neurology. Genetics
Published: December 06, 2024

Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.

Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.

Journal: European journal of medical genetics
Published: January 09, 2024

A progressive KY myopathy could be caused by a missense pathogenic variant.

A progressive KY myopathy could be caused by a missense pathogenic variant.

Journal: Clinical genetics
Published: November 15, 2022

Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.

Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.

Journal: Annals of neurology
Published: May 25, 2021

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.

Journal: Genes
Published: March 23, 2021

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.

Journal: Clinical dysmorphology
Published: July 14, 2020

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.

Journal: Clinical genetics
Published: June 24, 2020
Showing 1-12 of 34

Last Updated: 09/26/2026